关键词: Gitelman综合征, 突变, SLC12A3基因

Abstract:

【Abstract】Objective：To identify the new mutations of SLCl2A3 and CLCNKB gene in patients with suspicious Gitelman syndrome, and Analyze the characteristics of the genetic mutations．Methodology: Ten patients hospitalized in the affiliated hospital of Qingdao university with the clinical and biochemical features of Gitelman syndrome were analyzed by direct sequencing of SLCl2A3 gene．One hundred unrelated normal subjects were selected to evaluate all the mutations found by this study and make sure that they are new mutations through the Human Gene Mutation date base．Results: Nine mutations were identified in SLCl2A3 gene of 10 patients with Gitelman syndrome. Four were novel variants, including 2 missense mutations：Glu429Lys, Ala264Gly, and one deletions：1740delC. Six were recurrent ones including 5 missense mutations: Cys430Gly, Asp486Asn, Ser283Tyr, Thr163Met, Arg913Gln; and one deletion: 2877_2878delAC. The Homozygous mutation Ala264Gly was found in 8 of 10 patients while the heterozygous mutation Asp486Asn in 4 of 10．The majority of the patients were compound heterozygous. Conclusions：Nine mutations were identified in SLCl2A3 gene of 10 patients with Gitelman syndrome, and 3 were novel variants;

Key words: Gitelman syndrome, Mutation, SLCl2A3 gene